What Fabry Disease Awareness Means to Me

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by Jerry Walter |

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When I think of awareness, I think of familiarity with Fabry disease. To me, spreading awareness means providing information and enticing people to learn enough about Fabry that they can recognize the signs in themselves or people they know. Being aware of the symptoms can lead to quicker diagnoses. Additional education about Fabry can enable appropriate monitoring, management, and treatment of the disease, leading to better health and longer lives.

In practice, Fabry awareness and education are aimed at the following audiences:

  • People who have Fabry disease but don’t know it (the unknown Fabry community).
  • People who knowingly live with Fabry disease.
  • Family members, caregivers, and friends.
  • Healthcare providers, clinical staff, and researchers.
  • Leaders and staff at pharmaceutical companies or other organizations.
  • The public.

In 2012, several advocacy groups and communities, including the U.S. National Fabry Disease Foundation (NFDF), the nonprofit organization I manage, formally recognized April as Fabry Disease Awareness Month. During this month, the Fabry community goes above and beyond its usual awareness and education efforts.

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Community Invited to Share Stories for Fabry Awareness Month

At the NFDF, we attempt to distribute more frequent Fabry information via FacebookTwitter, and our Fabry Focus newsletter, which you can subscribe to by completing this form. The NFDF website also has an abundance of information available. I wrote a column in April 2021 about resources that can help you spread Fabry disease awareness.

Leading up to April, the NFDF works with Fabry community members in each state to ask their respective governors to proclaim April as Fabry Disease Awareness Month. This year, we received governor’s proclamations from 32 states, as shown on the map below. Requests are still pending in nine states with viable proclamation programs. You can see photos of community members and proclamations at the NFDF’s “2022 Governor’s Proclamations for Fabry Disease Awareness Month” Facebook album. We hope these proclamations will tempt people to investigate and learn about Fabry disease.

Fabry disease awareness | Fabry Disease News | A map of the United States shows which states have proclaimed April to be Fabry Disease Awareness Month, and which states are still pending the request.

(courtesy of Jerry Walter)

The 2022 status map for governor’s proclamations of April as Fabry Disease Awareness Month. (Courtesy of Jerry Walter)

Among the more than 7,000 known rare disorders, Fabry research has exceeded that of many others. A genetic test can definitively diagnose the disease, and while more than 90% of rare diseases don’t have U.S. Food and Drug Administration-approved treatments, Fabry has two types of FDA-approved treatments.

Once patients are diagnosed, they can benefit from primary Fabry treatment, complementary therapies, and healthy lifestyle choices. Some states have enacted newborn screening programs for Fabry disease, but they are not yet widespread. Implementing newborn screening nationwide would minimize the need for symptoms recognition and help future generations avoid lengthy diagnostic journeys.

Meanwhile, we must continue to focus awareness efforts on increasing early recognition and diagnosis. Recognizing some or all of the common manifestations of Fabry disease could lead to identifying the disease. The following list is not all-inclusive, but I believe these signs and symptoms are most likely to lead to diagnosis.

  • Reduced ability or inability to perspire, and frequent overheating with hot temperatures and physical activity.
  • Frequent unexplained neuropathic pain, especially in the hands and feet, and overall body aches.
  • Frequent gastrointestinal issues, such as diarrhea, constipation, or abdominal pain, as well as early satiety (feeling full quickly when eating).
  • Unexplained fevers, especially in childhood.
  • A skin rash called angiokeratoma (small, sometimes clustered, red, reddish-purple, or bluish-black skin lesions), usually most prominent in the “swimming trunks” area, but can be found anywhere.
Fabry disease awareness | Fabry Disease News | A close-up photo of Jerry's navel, which shows dozens of small purplish dots called angiokeratoma.

Angiokeratoma in my navel. I have hundreds elsewhere. (Courtesy of Jerry Walter)

  • Unexplained chronic lymphedema in the lower legs, ankles, and feet.
  • An opaque whorl pattern in the eyes called cornea verticillata, which can be seen in a routine eye exam.
  • Unexplained proteinuria, abnormal creatinine levels, or an abnormal glomerular filtration rate.
  • Left ventricular hypertrophy, which is often diagnosed as cardiomyopathy (stiff, enlarged, or thickened heart muscle).
  • Unexplained cardiac arrhythmias (irregular heartbeat).
  • Unexplained transient ischemic attacks or stroke at a relatively young age.
  • An incidence or family history of premature kidney failure, heart failure, or stroke.

Even as the awareness month wraps up, we continue to develop ways to disseminate information and spread awareness to the unknown Fabry disease community.


Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Fabry disease.

Comments

Diane avatar

Diane

Jerry, I can't say enough about the value you bring to the community. With so very many symptoms, it is easy to see how Fabry could be missed by those with the disease or the medical community. Spreading awareness, as you are doing, is saving lives.

Reply
Jerry Walter avatar

Jerry Walter

Thank you, Diane, for your encouraging words!

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